USAT: a bioinformatic toolkit to facilitate interpretation and comparative visualization of tandem repeat sequences.

ABSTRACT:

Background

Tandem repeats (TR), highly variable genomic variants, are widely used in individual identification, disease diagnostics, and evolutionary studies. The recent advances in sequencing technologies and bioinformatic tools facilitate calling TR haplotypes genome widely. Both length-based and sequence-based TR alleles are used in different applications. However, sequence-based TR alleles could provide the highest precision in characterizing TR haplotypes. The need to identify the differences at the single nucleotide level between or among TR haplotypes with an easy-use bioinformatic tool is essential.

Results

In this study, we developed a Universal STR Allele Toolkit (USAT) for TR haplotype analysis, which takes TR haplotype output from existing tools to perform allele

SUBMITTER: Wang X 

PROVIDER: S-EPMC9675219 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature